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Article

A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.

The Journal of clinical endocrinology and metabolism - 1 Jan 2015

Monticone Silvia, Bandulik Sascha, Stindl Julia, Zilbermint Mihail, Dedov Ivan, Mulatero Paolo, Allgaeuer Michael, Lee Chyi-Chia Richard, Stratakis Constantine A, Williams Tracy A, Tiulpakov Anatoly

Abstract excerpt

CONTEXT: Familial hyperaldosteronism type III (FH-III) is a rare and clinically heterogeneous condition, that can display mild as well as severe phenotypes. Point mutations in the KCNJ5 gene, affecting the ion selectivity of the inward rectifier K(+) channel 4 (Kir3.4), underlie the molecular basis of FH-III. OBJECTIVE: The objective of the study was to investigate the effects of a de novo germline KCNJ5...

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Child, Preschool
Failure to Thrive
G Protein-Coupled Inwardly-Rectifying Potassium Channels
KCNJ5 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hyperaldosteronism

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Identifiers

PMID: 25322277
DOI: 10.1210/jc.2014-3636
PMCID: PMC4283020

Genes

KCNJ5

Variants

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